Cleidocranial dysostosis

Overview

Cleidocranial dysostosis comes from the words cleido (collar bone), cranial (head) and dysostosis (abnormal bone forming); it is also known as cleidocranial dysplasia. It's characterized by abnormalities of the face and head and by the complete or partial absence of the collar bones, or clavicles.

Characteristics of cleidocranial dysostosis include:

• Delayed closure of the spaces between the bones of the skull
• Underdeveloped cheekbones and prominent brow bone
• Wide nasal bridge due to increased space between the eyes
• High arched palate or possible cleft palate
• Short stature
• Scoliosis
• Hearing loss

Diagnosis

Cleidocranial dysostosis is diagnosed with a physical examination and X-rays of the head, chest and hands. Genetic testing for mutations in the gene that causes the condition, RUNX2, is available but usually isn't necessary for the initial diagnosis.

Treatment

Because dental problems — such as delayed tooth eruption and additional teeth — are the most significant complications of cleidocranial dysostosis, proper dental and orthodontic treatment is critical. Dental problems are due to direct effects on developing teeth caused by mutations in the gene RUNX2.

Sinus and middle ear infections are also common and require aggressive treatment. If your child has frequent middle ear infections, tympanostomy tubes may be recommended. These are small tubes that are surgically placed into the eardrum to equalize pressure and aerate the middle ear, which helps prevent further infections and hearing loss.

Your child should also be evaluated by an orthopedic specialist for scoliosis, bone density abnormalities and osteoporosis, and other bone abnormalities such as missing collar bones.